Incidental Mutation 'R5309:Slc34a2'
| ID |
404707 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc34a2
|
| Ensembl Gene |
ENSMUSG00000029188 |
| Gene Name |
solute carrier family 34 (sodium phosphate), member 2 |
| Synonyms |
type IIb Na/Picotransporter, D5Ertd227e, NaPi-2b, Npt2b |
| MMRRC Submission |
042892-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5309 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
53206695-53229006 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 53226830 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 651
(E651G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092380
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094787]
|
| AlphaFold |
Q9DBP0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000094787
AA Change: E651G
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000092380
Gene: ENSMUSG00000029188
AA Change: E651G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Na_Pi_cotrans
|
110 |
252 |
2.3e-26 |
PFAM |
|
Pfam:Na_Pi_cotrans
|
374 |
551 |
2.6e-17 |
PFAM |
|
low complexity region
|
553 |
570 |
N/A |
INTRINSIC |
|
low complexity region
|
616 |
645 |
N/A |
INTRINSIC |
|
low complexity region
|
649 |
655 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147243
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168667
AA Change: E592G
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000132328
Gene: ENSMUSG00000029188
AA Change: E592G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Na_Pi_cotrans
|
110 |
253 |
1.2e-33 |
PFAM |
|
Pfam:Na_Pi_cotrans
|
379 |
517 |
4.1e-15 |
PFAM |
|
low complexity region
|
557 |
586 |
N/A |
INTRINSIC |
|
low complexity region
|
590 |
596 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0930 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.3%
|
| Validation Efficiency |
99% (68/69) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a pH-sensitive sodium-dependent phosphate transporter. Phosphate uptake is increased at lower pH. Defects in this gene are a cause of pulmonary alveolar microlithiasis. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, May 2010]
PHENOTYPE: Homozygous null mice display embryonic lethality, embryonic growth arrest, failure of embryo turning and somitogenesis, impaired placental development and impaired yolk sac vascular remodeling. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(3) : Targeted, knock-out(1) Targeted, other(2) |
| Other mutations in this stock |
Total: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A630073D07Rik |
T |
C |
6: 132,603,540 (GRCm39) |
Q72R |
unknown |
Het |
| Abca15 |
T |
C |
7: 119,944,592 (GRCm39) |
V409A |
probably damaging |
Het |
| Abcg3 |
A |
C |
5: 105,084,465 (GRCm39) |
C577G |
possibly damaging |
Het |
| Adamtsl5 |
A |
T |
10: 80,180,982 (GRCm39) |
|
probably benign |
Het |
| Adgrg3 |
G |
A |
8: 95,766,492 (GRCm39) |
V388I |
probably benign |
Het |
| Ank2 |
T |
C |
3: 126,753,417 (GRCm39) |
Q288R |
probably damaging |
Het |
| Cdc45 |
C |
T |
16: 18,614,647 (GRCm39) |
R205H |
probably damaging |
Het |
| Cdh3 |
A |
G |
8: 107,265,652 (GRCm39) |
T232A |
probably damaging |
Het |
| Cfap210 |
T |
C |
2: 69,617,602 (GRCm39) |
T60A |
possibly damaging |
Het |
| Cntnap5c |
A |
T |
17: 58,666,249 (GRCm39) |
E1093V |
probably benign |
Het |
| Cplx3 |
A |
T |
9: 57,518,360 (GRCm39) |
L343Q |
probably damaging |
Het |
| Cwh43 |
A |
G |
5: 73,574,110 (GRCm39) |
H258R |
probably benign |
Het |
| Cyp2j6 |
T |
A |
4: 96,423,793 (GRCm39) |
I192F |
probably damaging |
Het |
| Dnaaf5 |
T |
A |
5: 139,138,617 (GRCm39) |
V266E |
probably damaging |
Het |
| Egfr |
G |
A |
11: 16,861,703 (GRCm39) |
G1161S |
probably benign |
Het |
| Ehmt1 |
A |
G |
2: 24,774,207 (GRCm39) |
V201A |
probably damaging |
Het |
| Exoc7 |
C |
A |
11: 116,195,853 (GRCm39) |
E28* |
probably null |
Het |
| Fam118a |
C |
T |
15: 84,934,956 (GRCm39) |
T195M |
probably damaging |
Het |
| Fancg |
A |
G |
4: 43,003,019 (GRCm39) |
F613L |
probably benign |
Het |
| Fbxo10 |
A |
T |
4: 45,042,036 (GRCm39) |
I731N |
possibly damaging |
Het |
| Fchsd1 |
C |
T |
18: 38,092,926 (GRCm39) |
|
probably benign |
Het |
| Gfm2 |
G |
A |
13: 97,299,659 (GRCm39) |
A406T |
probably damaging |
Het |
| Gnal |
G |
A |
18: 67,346,178 (GRCm39) |
R219K |
possibly damaging |
Het |
| Helz2 |
T |
A |
2: 180,876,639 (GRCm39) |
E1285V |
probably benign |
Het |
| Ighv1-74 |
A |
G |
12: 115,766,501 (GRCm39) |
S39P |
probably damaging |
Het |
| Ipo11 |
T |
C |
13: 106,970,481 (GRCm39) |
|
probably benign |
Het |
| Klc1 |
A |
G |
12: 111,762,055 (GRCm39) |
K575R |
possibly damaging |
Het |
| Larp1 |
T |
C |
11: 57,941,634 (GRCm39) |
V689A |
possibly damaging |
Het |
| Mki67 |
A |
T |
7: 135,302,559 (GRCm39) |
V825E |
probably damaging |
Het |
| Mmp9 |
T |
A |
2: 164,792,715 (GRCm39) |
|
probably benign |
Het |
| Myog |
A |
G |
1: 134,218,064 (GRCm39) |
K91E |
probably damaging |
Het |
| Nfil3 |
A |
T |
13: 53,121,656 (GRCm39) |
V416E |
probably damaging |
Het |
| Nup160 |
G |
T |
2: 90,563,176 (GRCm39) |
E1314* |
probably null |
Het |
| Or4g17 |
T |
C |
2: 111,210,179 (GRCm39) |
V278A |
possibly damaging |
Het |
| Or4k35 |
T |
G |
2: 111,100,655 (GRCm39) |
D19A |
probably benign |
Het |
| Or6c66b |
A |
C |
10: 129,377,134 (GRCm39) |
M243L |
probably benign |
Het |
| Or6c75 |
T |
A |
10: 129,337,383 (GRCm39) |
V210E |
probably damaging |
Het |
| Osbpl8 |
T |
A |
10: 111,106,418 (GRCm39) |
V275E |
probably benign |
Het |
| Osbpl9 |
A |
G |
4: 108,923,352 (GRCm39) |
S520P |
probably damaging |
Het |
| Ppp4r4 |
T |
A |
12: 103,573,147 (GRCm39) |
|
probably null |
Het |
| Proz |
T |
C |
8: 13,111,049 (GRCm39) |
L7P |
probably damaging |
Het |
| Ptpn13 |
G |
A |
5: 103,688,919 (GRCm39) |
S904N |
probably damaging |
Het |
| Rap1gds1 |
A |
G |
3: 138,664,389 (GRCm39) |
L322P |
probably damaging |
Het |
| Rnf5 |
A |
G |
17: 34,820,562 (GRCm39) |
F175S |
probably benign |
Het |
| Sema4a |
G |
A |
3: 88,344,343 (GRCm39) |
S636F |
probably damaging |
Het |
| Sfrp2 |
A |
G |
3: 83,676,708 (GRCm39) |
D193G |
probably damaging |
Het |
| Shoc2 |
T |
C |
19: 53,976,164 (GRCm39) |
V18A |
probably benign |
Het |
| Skint8 |
C |
A |
4: 111,807,390 (GRCm39) |
L359M |
probably damaging |
Het |
| Slc10a6 |
A |
T |
5: 103,756,958 (GRCm39) |
C269S |
probably damaging |
Het |
| Snx13 |
C |
T |
12: 35,194,324 (GRCm39) |
Q956* |
probably null |
Het |
| Spg21 |
A |
G |
9: 65,376,084 (GRCm39) |
I31V |
probably benign |
Het |
| Srpk2 |
T |
C |
5: 23,730,716 (GRCm39) |
K268E |
probably damaging |
Het |
| Supt16 |
T |
C |
14: 52,400,155 (GRCm39) |
E996G |
probably damaging |
Het |
| Syf2 |
A |
G |
4: 134,663,380 (GRCm39) |
D184G |
probably benign |
Het |
| Tmem45a2 |
T |
C |
16: 56,859,370 (GRCm39) |
D287G |
possibly damaging |
Het |
| Utrn |
A |
T |
10: 12,603,513 (GRCm39) |
D627E |
probably damaging |
Het |
| Vmn1r170 |
T |
A |
7: 23,305,880 (GRCm39) |
I94N |
probably damaging |
Het |
| Vmn2r103 |
A |
T |
17: 20,013,296 (GRCm39) |
N139I |
probably benign |
Het |
| Vmn2r15 |
T |
A |
5: 109,440,956 (GRCm39) |
I301F |
probably damaging |
Het |
| Vps35l |
T |
C |
7: 118,412,799 (GRCm39) |
I629T |
probably damaging |
Het |
| Zfp949 |
A |
C |
9: 88,449,236 (GRCm39) |
T14P |
possibly damaging |
Het |
|
| Other mutations in Slc34a2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00785:Slc34a2
|
APN |
5 |
53,222,950 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL00845:Slc34a2
|
APN |
5 |
53,215,696 (GRCm39) |
splice site |
probably benign |
|
|
IGL01024:Slc34a2
|
APN |
5 |
53,224,972 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
IGL01300:Slc34a2
|
APN |
5 |
53,225,469 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL01680:Slc34a2
|
APN |
5 |
53,218,218 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02226:Slc34a2
|
APN |
5 |
53,225,073 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL02682:Slc34a2
|
APN |
5 |
53,216,580 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
IGL03294:Slc34a2
|
APN |
5 |
53,221,340 (GRCm39) |
missense |
probably benign |
0.00 |
|
tucumcari
|
UTSW |
5 |
53,221,351 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
D4216:Slc34a2
|
UTSW |
5 |
53,222,839 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0094:Slc34a2
|
UTSW |
5 |
53,221,310 (GRCm39) |
missense |
probably benign |
0.28 |
|
R0227:Slc34a2
|
UTSW |
5 |
53,226,968 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R0524:Slc34a2
|
UTSW |
5 |
53,222,215 (GRCm39) |
nonsense |
probably null |
|
|
R0836:Slc34a2
|
UTSW |
5 |
53,225,049 (GRCm39) |
missense |
probably benign |
|
|
R1525:Slc34a2
|
UTSW |
5 |
53,226,848 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1655:Slc34a2
|
UTSW |
5 |
53,226,761 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1753:Slc34a2
|
UTSW |
5 |
53,218,733 (GRCm39) |
missense |
probably benign |
0.37 |
|
R1838:Slc34a2
|
UTSW |
5 |
53,215,778 (GRCm39) |
missense |
probably benign |
|
|
R2361:Slc34a2
|
UTSW |
5 |
53,225,487 (GRCm39) |
missense |
probably benign |
0.10 |
|
R2405:Slc34a2
|
UTSW |
5 |
53,215,523 (GRCm39) |
missense |
probably benign |
0.04 |
|
R3688:Slc34a2
|
UTSW |
5 |
53,222,174 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4108:Slc34a2
|
UTSW |
5 |
53,221,351 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R4176:Slc34a2
|
UTSW |
5 |
53,224,910 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4380:Slc34a2
|
UTSW |
5 |
53,226,628 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4464:Slc34a2
|
UTSW |
5 |
53,226,524 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4780:Slc34a2
|
UTSW |
5 |
53,226,793 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4816:Slc34a2
|
UTSW |
5 |
53,226,362 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4934:Slc34a2
|
UTSW |
5 |
53,224,942 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5265:Slc34a2
|
UTSW |
5 |
53,218,776 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5313:Slc34a2
|
UTSW |
5 |
53,226,681 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5884:Slc34a2
|
UTSW |
5 |
53,226,722 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R6084:Slc34a2
|
UTSW |
5 |
53,224,989 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6310:Slc34a2
|
UTSW |
5 |
53,222,139 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6568:Slc34a2
|
UTSW |
5 |
53,226,476 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6817:Slc34a2
|
UTSW |
5 |
53,221,370 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6845:Slc34a2
|
UTSW |
5 |
53,226,511 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6944:Slc34a2
|
UTSW |
5 |
53,222,225 (GRCm39) |
missense |
probably benign |
|
|
R7873:Slc34a2
|
UTSW |
5 |
53,215,714 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8114:Slc34a2
|
UTSW |
5 |
53,225,701 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8158:Slc34a2
|
UTSW |
5 |
53,218,182 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8364:Slc34a2
|
UTSW |
5 |
53,225,716 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R9158:Slc34a2
|
UTSW |
5 |
53,221,217 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9235:Slc34a2
|
UTSW |
5 |
53,226,667 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9314:Slc34a2
|
UTSW |
5 |
53,218,143 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
Z1176:Slc34a2
|
UTSW |
5 |
53,218,159 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AATTTCCTACCCTTGTGGATGCAC -3'
(R):5'- AGGTAGCTGGAGACGCTTAC -3'
Sequencing Primer
(F):5'- GTGGATGCACTCTCTGAAACC -3'
(R):5'- CTTACGGAAGGGGTGGATCC -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation